| Accession | HsInv0141 | Region of the inversion | chr2:180114641-180129398 |
| Status | Ambiguous | Prediction type | Simple |
| Estimated Inversion Size | 5,239 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr2:180114641-180123678 |
| Ancestral orientation | NA | Breakpoint 2 | chr2:180119398-180129398 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||||||||
| Method | Paired-end mapping (PEM), Long-read sequencing | ||||||||||
| Name | |||
| Breakpoint 1 | chr2:180119641-180119641 | Breakpoint 2 | chr2:180124398-180124398 |
| Individuals | 329 out of 2504 individuals
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| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr2:180116868-180116868 | Breakpoint 2 | chr2:180124294-180124294 | ||||||
| Individuals |
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+ Validation and genotyping
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||
| Method | Sequence analysis |
| Status | False |
| Comment | Validated by sequence analysis of Oxford Nanopore Minion long reads from long-range PCR amplicons, PacBio long reads from fosmids |
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr2:180114641-180123678 | Breakpoint 2 | chr2:180119398-180129398 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.18 | GC content | 0.39 | Stability | 1.8 |
+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
Not defined
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
- ZNF385B
| Gene position | chr2:180014955-180135560 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-18 00:00:00
| Breakpoint 1 | chr2:180114641-180123678 | Breakpoint 2 | chr2:180119398-180129398 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:00
| Breakpoint 1 | chr2:180110058-180123678 | Breakpoint 2 | chr2:180117484-180131104 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
